N70D (p.Asn70Asp) variant of NPC1 (O15118)
N70D (p.Asn70Asp) in NPC1 (O15118) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
N70D (p.Asn70Asp) variant details
- p.Asn70Asp
- NCI-TCGA Cosmic COSV5258
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.22
- CADD 17.50
- PolyPhen-2 0.00
- SIFT 0.40
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available